Version 5.4
| Homo sapiens Gene: GNPTAB | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-53417.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | GNPTAB | ||||||||||||||||||
| Gene Name | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000111670 | ||||||||||||||||||
| Encoded Proteins |
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 12:101745497-101830938 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q23.2 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME | |||||||||||||||||||
| KEGG |
Lysosome pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.46850 Hs.607533 | ||||||||||||||||||
| RefSeq | NM_024312 XM_006719593 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS9088 | ||||||||||||||||||
| HPRD | 11350 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||